Variant report

Variant	rs45463692
Chromosome Location	chr4:175443322-175443323
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1365614	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17060592	0.87[AMR][1000 genomes]
rs73867617	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73867618	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869116	chr4:175231090-175801761	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv525487	chr4:175400104-175470867	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv880970	chr4:175434394-175444006	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv880884	chr4:175439056-175453830	Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175440000-175444000	Active TSS	Liver	Liver
2	chr4:175440800-175446000	Active TSS	Duodenum Mucosa	Duodenum
3	chr4:175441600-175444200	Active TSS	Rectal Mucosa Donor 31	rectum
4	chr4:175442000-175444800	Active TSS	Rectal Smooth Muscle	rectum
5	chr4:175442000-175445200	Active TSS	A549	lung
6	chr4:175442400-175443400	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr4:175442400-175443600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr4:175442400-175444400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:175442400-175445400	Active TSS	Fetal Intestine Large	intestine
10	chr4:175442600-175444000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr4:175442600-175444200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:175442600-175444400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr4:175442600-175444400	Bivalent/Poised TSS	Fetal Lung	lung
14	chr4:175442600-175444400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
15	chr4:175442600-175444600	Active TSS	Fetal Intestine Small	intestine
16	chr4:175442600-175444800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr4:175442600-175444800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:175442600-175445200	Active TSS	Stomach Smooth Muscle	stomach
19	chr4:175442600-175445400	Active TSS	Colon Smooth Muscle	Colon
20	chr4:175442600-175445400	Active TSS	Stomach Mucosa	stomach
21	chr4:175442600-175445600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr4:175442800-175443400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:175442800-175443400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
24	chr4:175442800-175443400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
25	chr4:175442800-175443400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:175442800-175443400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:175442800-175443400	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr4:175442800-175443400	Flanking Active TSS	Fetal Thymus	thymus
29	chr4:175442800-175443400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr4:175442800-175443600	Active TSS	Colonic Mucosa	Colon
31	chr4:175442800-175443600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
32	chr4:175442800-175443600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
33	chr4:175442800-175443600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr4:175442800-175443800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:175442800-175443800	Active TSS	Brain Substantia Nigra	brain
36	chr4:175442800-175444000	Active TSS	Brain Anterior Caudate	brain
37	chr4:175442800-175444000	Active TSS	Ovary	ovary
38	chr4:175442800-175444200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
39	chr4:175442800-175444200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
40	chr4:175442800-175444200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
41	chr4:175442800-175444200	Active TSS	Gastric	stomach
42	chr4:175442800-175444200	Active TSS	Pancreas	Pancrea
43	chr4:175442800-175444200	Active TSS	Small Intestine	intestine
44	chr4:175442800-175444200	Bivalent/Poised TSS	Osteobl	bone
45	chr4:175442800-175444400	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr4:175442800-175444400	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr4:175442800-175444400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
48	chr4:175442800-175444400	Active TSS	Right Atrium	heart
49	chr4:175442800-175444400	Flanking Active TSS	NHEK	skin
50	chr4:175442800-175444600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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